

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | chromosome condensation (GO:0030261) | 8.99696703 |
| 2 | DNA packaging (GO:0006323) | 8.73371184 |
| 3 | sperm capacitation (GO:0048240) | 8.62222196 |
| 4 | spermatid nucleus differentiation (GO:0007289) | 8.41097353 |
| 5 | single strand break repair (GO:0000012) | 8.23549726 |
| 6 | microtubule depolymerization (GO:0007019) | 8.18961666 |
| 7 | protein targeting to Golgi (GO:0000042) | 8.04997109 |
| 8 | plasma membrane fusion (GO:0045026) | 7.89102746 |
| 9 | response to pheromone (GO:0019236) | 7.87332135 |
| 10 | spermatid development (GO:0007286) | 7.72889936 |
| 11 | establishment of protein localization to Golgi (GO:0072600) | 7.71042606 |
| 12 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 7.49111377 |
| 13 | protein polyglutamylation (GO:0018095) | 7.35112115 |
| 14 | sperm-egg recognition (GO:0035036) | 7.13667063 |
| 15 | rRNA methylation (GO:0031167) | 7.01080669 |
| 16 | microtubule polymerization or depolymerization (GO:0031109) | 6.98592926 |
| 17 | multicellular organism reproduction (GO:0032504) | 6.63651390 |
| 18 | binding of sperm to zona pellucida (GO:0007339) | 6.57431351 |
| 19 | sexual reproduction (GO:0019953) | 6.50813492 |
| 20 | axonemal dynein complex assembly (GO:0070286) | 6.39250819 |
| 21 | reproduction (GO:0000003) | 6.37266280 |
| 22 | calcium ion-dependent exocytosis (GO:0017156) | 6.30093963 |
| 23 | spermatogenesis (GO:0007283) | 6.18583036 |
| 24 | male gamete generation (GO:0048232) | 6.16447928 |
| 25 | protein localization to Golgi apparatus (GO:0034067) | 6.15383700 |
| 26 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.15120493 |
| 27 | centriole replication (GO:0007099) | 6.03267431 |
| 28 | microtubule severing (GO:0051013) | 5.99037300 |
| 29 | rRNA modification (GO:0000154) | 5.93482924 |
| 30 | negative regulation of inclusion body assembly (GO:0090084) | 5.89390930 |
| 31 | cell-cell recognition (GO:0009988) | 5.83091017 |
| 32 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.70173810 |
| 33 | gamete generation (GO:0007276) | 5.65804722 |
| 34 | centriole assembly (GO:0098534) | 5.26664777 |
| 35 | regulation of cilium movement (GO:0003352) | 5.23058377 |
| 36 | cilium or flagellum-dependent cell motility (GO:0001539) | 5.17017476 |
| 37 | motile cilium assembly (GO:0044458) | 5.16767972 |
| 38 | regulation of centriole replication (GO:0046599) | 5.14696980 |
| 39 | seminiferous tubule development (GO:0072520) | 4.96837938 |
| 40 | RNA destabilization (GO:0050779) | 4.89441210 |
| 41 | single fertilization (GO:0007338) | 4.89306339 |
| 42 | positive regulation of Rab GTPase activity (GO:0032851) | 4.85286443 |
| 43 | regulation of Rab GTPase activity (GO:0032313) | 4.85286443 |
| 44 | chromatin silencing (GO:0006342) | 4.77718635 |
| 45 | cellular ketone body metabolic process (GO:0046950) | 4.66578525 |
| 46 | epithelial cilium movement (GO:0003351) | 4.52575014 |
| 47 | musculoskeletal movement (GO:0050881) | 4.51617438 |
| 48 | multicellular organismal movement (GO:0050879) | 4.51617438 |
| 49 | multicellular organismal reproductive process (GO:0048609) | 4.50823870 |
| 50 | germ cell development (GO:0007281) | 4.40947251 |
| 51 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.39489082 |
| 52 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.21662240 |
| 53 | nucleus organization (GO:0006997) | 4.21456505 |
| 54 | fertilization (GO:0009566) | 4.18101211 |
| 55 | cell wall macromolecule catabolic process (GO:0016998) | 4.16542548 |
| 56 | regulation of inclusion body assembly (GO:0090083) | 4.11814698 |
| 57 | ketone body metabolic process (GO:1902224) | 4.11302569 |
| 58 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 4.04730674 |
| 59 | cell wall macromolecule metabolic process (GO:0044036) | 4.03421551 |
| 60 | cilium movement (GO:0003341) | 3.92939192 |
| 61 | glycerol ether metabolic process (GO:0006662) | 3.92912019 |
| 62 | glomerular visceral epithelial cell development (GO:0072015) | 3.89551090 |
| 63 | microtubule nucleation (GO:0007020) | 3.87062241 |
| 64 | coenzyme catabolic process (GO:0009109) | 3.72697132 |
| 65 | glomerular epithelial cell development (GO:0072310) | 3.69250055 |
| 66 | cerebral cortex neuron differentiation (GO:0021895) | 3.64881876 |
| 67 | ether metabolic process (GO:0018904) | 3.62719391 |
| 68 | nucleosome disassembly (GO:0006337) | 3.51721564 |
| 69 | protein-DNA complex disassembly (GO:0032986) | 3.51721564 |
| 70 | negative regulation of gene expression, epigenetic (GO:0045814) | 3.37156383 |
| 71 | polyamine biosynthetic process (GO:0006596) | 3.37096595 |
| 72 | regulation of microtubule-based movement (GO:0060632) | 3.31199715 |
| 73 | regulation of somitogenesis (GO:0014807) | 3.17237486 |
| 74 | organic cation transport (GO:0015695) | 3.17185559 |
| 75 | histone H3-K9 demethylation (GO:0033169) | 3.16887293 |
| 76 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.14595603 |
| 77 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.12565392 |
| 78 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.07621822 |
| 79 | membrane protein intracellular domain proteolysis (GO:0031293) | 3.06873686 |
| 80 | intra-Golgi vesicle-mediated transport (GO:0006891) | 3.05891208 |
| 81 | protein depolymerization (GO:0051261) | 3.05480149 |
| 82 | multicellular organismal development (GO:0007275) | 3.01350034 |
| 83 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.00299515 |
| 84 | regulation of interleukin-13 production (GO:0032656) | 2.98817357 |
| 85 | cell recognition (GO:0008037) | 2.95905570 |
| 86 | response to acidic pH (GO:0010447) | 2.94051272 |
| 87 | cellular response to pH (GO:0071467) | 2.92753167 |
| 88 | Golgi to endosome transport (GO:0006895) | 2.80989685 |
| 89 | homeostasis of number of cells within a tissue (GO:0048873) | 2.80826317 |
| 90 | receptor recycling (GO:0001881) | 2.73596083 |
| 91 | mitochondrial fission (GO:0000266) | 2.70529562 |
| 92 | axoneme assembly (GO:0035082) | 2.69903582 |
| 93 | DNA conformation change (GO:0071103) | 2.69441781 |
| 94 | regulation of T-helper 2 cell differentiation (GO:0045628) | 2.68738525 |
| 95 | spinal cord motor neuron differentiation (GO:0021522) | 2.68658245 |
| 96 | positive regulation of guanylate cyclase activity (GO:0031284) | 2.64982940 |
| 97 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 2.64947156 |
| 98 | sperm motility (GO:0030317) | 11.7233698 |
| 99 | acrosome reaction (GO:0007340) | 11.5419552 |
| 100 | fusion of sperm to egg plasma membrane (GO:0007342) | 10.2304427 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 4.21186875 |
| 2 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.17993122 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.19555564 |
| 4 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.57599019 |
| 5 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.57599019 |
| 6 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.49627243 |
| 7 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.46606366 |
| 8 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.34339877 |
| 9 | FUS_26573619_Chip-Seq_HEK293_Human | 2.22652620 |
| 10 | * CBP_20019798_ChIP-Seq_JUKART_Human | 2.22011397 |
| 11 | * IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.22011397 |
| 12 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.10623883 |
| 13 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.07526413 |
| 14 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.93177827 |
| 15 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.85090952 |
| 16 | ERA_21632823_ChIP-Seq_H3396_Human | 1.81466460 |
| 17 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.80340702 |
| 18 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.76773282 |
| 19 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.75571614 |
| 20 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.70715003 |
| 21 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.69343627 |
| 22 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.67711317 |
| 23 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.64458861 |
| 24 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.63720358 |
| 25 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.62502908 |
| 26 | AR_25329375_ChIP-Seq_VCAP_Human | 1.62303945 |
| 27 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.57681451 |
| 28 | P300_19829295_ChIP-Seq_ESCs_Human | 1.56018543 |
| 29 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.55912173 |
| 30 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.55082678 |
| 31 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.54931077 |
| 32 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.53735654 |
| 33 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.53527987 |
| 34 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.53445586 |
| 35 | * EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.53231174 |
| 36 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.51889747 |
| 37 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.49959983 |
| 38 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.49396580 |
| 39 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.48214672 |
| 40 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.48035261 |
| 41 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.46607877 |
| 42 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.39960849 |
| 43 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.37418576 |
| 44 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.36659566 |
| 45 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.32056495 |
| 46 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.31936170 |
| 47 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.31511159 |
| 48 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.31305786 |
| 49 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.31075270 |
| 50 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.30988232 |
| 51 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.30161062 |
| 52 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.30042984 |
| 53 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.29982404 |
| 54 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.28209901 |
| 55 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.27353397 |
| 56 | * TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.27278719 |
| 57 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.26815336 |
| 58 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.24273926 |
| 59 | TBL1_22424771_ChIP-Seq_293T_Human | 1.23614424 |
| 60 | NFYB_21822215_ChIP-Seq_K562_Human | 1.22874511 |
| 61 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.21311777 |
| 62 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.20336449 |
| 63 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.19911106 |
| 64 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.19827800 |
| 65 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.19559275 |
| 66 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.19555225 |
| 67 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.19467486 |
| 68 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.19363553 |
| 69 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.18623458 |
| 70 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.18595944 |
| 71 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.17827017 |
| 72 | STAT3_23295773_ChIP-Seq_U87_Human | 1.17778442 |
| 73 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.17065889 |
| 74 | P68_20966046_ChIP-Seq_HELA_Human | 1.16902009 |
| 75 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.16662297 |
| 76 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.16611347 |
| 77 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.16144950 |
| 78 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.15380500 |
| 79 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.14977755 |
| 80 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.12005236 |
| 81 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.11343931 |
| 82 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.09331423 |
| 83 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.09094227 |
| 84 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.09091646 |
| 85 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.09048635 |
| 86 | TCF4_18268006_ChIP-ChIP_LS174T_Human | 1.09004053 |
| 87 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.08963271 |
| 88 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.08963271 |
| 89 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.08352568 |
| 90 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.07482582 |
| 91 | KDM2B_26808549_Chip-Seq_REH_Human | 1.06870765 |
| 92 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.06462906 |
| 93 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.05782454 |
| 94 | P300_27268052_Chip-Seq_Bcells_Human | 1.03625076 |
| 95 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.03524475 |
| 96 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.02985552 |
| 97 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.02149234 |
| 98 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.02126386 |
| 99 | NFYA_21822215_ChIP-Seq_K562_Human | 1.02020586 |
| 100 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.00745910 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003878_abnormal_ear_physiology | 5.12465575 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 5.12465575 |
| 3 | MP0003698_abnormal_male_reproductive | 4.25940160 |
| 4 | MP0005670_abnormal_white_adipose | 3.96215582 |
| 5 | MP0001929_abnormal_gametogenesis | 3.71321137 |
| 6 | MP0001348_abnormal_lacrimal_gland | 3.52870522 |
| 7 | MP0003646_muscle_fatigue | 2.42144243 |
| 8 | MP0002161_abnormal_fertility/fecundity | 2.37125556 |
| 9 | MP0005379_endocrine/exocrine_gland_phen | 2.21491070 |
| 10 | MP0000678_abnormal_parathyroid_gland | 2.06753738 |
| 11 | MP0003011_delayed_dark_adaptation | 2.01666630 |
| 12 | MP0003718_maternal_effect | 2.01369303 |
| 13 | MP0005410_abnormal_fertilization | 11.5696903 |
| 14 | MP0002653_abnormal_ependyma_morphology | 1.73178036 |
| 15 | MP0002210_abnormal_sex_determination | 1.72726142 |
| 16 | MP0005423_abnormal_somatic_nervous | 1.69034408 |
| 17 | MP0002132_abnormal_respiratory_system | 1.67665646 |
| 18 | MP0001486_abnormal_startle_reflex | 1.62235513 |
| 19 | MP0001485_abnormal_pinna_reflex | 1.59810575 |
| 20 | MP0002234_abnormal_pharynx_morphology | 1.47407653 |
| 21 | MP0004859_abnormal_synaptic_plasticity | 1.41150638 |
| 22 | MP0001145_abnormal_male_reproductive | 1.37859575 |
| 23 | MP0002249_abnormal_larynx_morphology | 1.36975994 |
| 24 | MP0002282_abnormal_trachea_morphology | 1.29872261 |
| 25 | MP0003879_abnormal_hair_cell | 1.29613167 |
| 26 | MP0000653_abnormal_sex_gland | 1.29461559 |
| 27 | MP0000534_abnormal_ureter_morphology | 1.23776987 |
| 28 | MP0000026_abnormal_inner_ear | 1.22089684 |
| 29 | MP0004742_abnormal_vestibular_system | 1.21818990 |
| 30 | MP0005253_abnormal_eye_physiology | 1.19484913 |
| 31 | MP0002735_abnormal_chemical_nociception | 1.17468687 |
| 32 | MP0001963_abnormal_hearing_physiology | 1.17371433 |
| 33 | MP0002822_catalepsy | 1.16400229 |
| 34 | MP0005310_abnormal_salivary_gland | 1.14246215 |
| 35 | MP0009053_abnormal_anal_canal | 1.10525841 |
| 36 | MP0002127_abnormal_cardiovascular_syste | 1.09638474 |
| 37 | MP0000955_abnormal_spinal_cord | 1.07048899 |
| 38 | MP0008789_abnormal_olfactory_epithelium | 0.99761593 |
| 39 | MP0005248_abnormal_Harderian_gland | 0.99456891 |
| 40 | MP0008877_abnormal_DNA_methylation | 0.99195374 |
| 41 | MP0005551_abnormal_eye_electrophysiolog | 0.98784383 |
| 42 | MP0001968_abnormal_touch/_nociception | 0.98674456 |
| 43 | MP0001765_abnormal_ion_homeostasis | 0.96973021 |
| 44 | MP0004510_myositis | 0.96114604 |
| 45 | MP0005171_absent_coat_pigmentation | 0.94719128 |
| 46 | MP0004085_abnormal_heartbeat | 0.93558307 |
| 47 | MP0008961_abnormal_basal_metabolism | 0.93346999 |
| 48 | MP0000049_abnormal_middle_ear | 0.93240505 |
| 49 | MP0005395_other_phenotype | 0.92418245 |
| 50 | MP0005451_abnormal_body_composition | 0.92236995 |
| 51 | MP0002928_abnormal_bile_duct | 0.91732789 |
| 52 | MP0000681_abnormal_thyroid_gland | 0.89625901 |
| 53 | MP0002067_abnormal_sensory_capabilities | 0.89142401 |
| 54 | MP0009697_abnormal_copulation | 0.87365771 |
| 55 | MP0009115_abnormal_fat_cell | 0.85241180 |
| 56 | MP0002229_neurodegeneration | 0.84537237 |
| 57 | MP0003137_abnormal_impulse_conducting | 0.80859266 |
| 58 | MP0004133_heterotaxia | 0.80454998 |
| 59 | MP0002733_abnormal_thermal_nociception | 0.78235682 |
| 60 | MP0005394_taste/olfaction_phenotype | 0.77365839 |
| 61 | MP0005499_abnormal_olfactory_system | 0.77365839 |
| 62 | MP0005083_abnormal_biliary_tract | 0.77352053 |
| 63 | MP0002138_abnormal_hepatobiliary_system | 0.76828388 |
| 64 | MP0008569_lethality_at_weaning | 0.76392535 |
| 65 | MP0002557_abnormal_social/conspecific_i | 0.74049576 |
| 66 | MP0005367_renal/urinary_system_phenotyp | 0.70871741 |
| 67 | MP0000516_abnormal_urinary_system | 0.70871741 |
| 68 | MP0003880_abnormal_central_pattern | 0.67557602 |
| 69 | MP0003122_maternal_imprinting | 0.67501844 |
| 70 | MP0009745_abnormal_behavioral_response | 0.67323775 |
| 71 | MP0001905_abnormal_dopamine_level | 0.66139920 |
| 72 | MP0001984_abnormal_olfaction | 0.65531663 |
| 73 | MP0005666_abnormal_adipose_tissue | 0.64819685 |
| 74 | MP0005391_vision/eye_phenotype | 0.64433723 |
| 75 | MP0000566_synostosis | 0.62272645 |
| 76 | MP0002572_abnormal_emotion/affect_behav | 0.61368550 |
| 77 | MP0005645_abnormal_hypothalamus_physiol | 0.59431183 |
| 78 | MP0005167_abnormal_blood-brain_barrier | 0.59237081 |
| 79 | MP0002272_abnormal_nervous_system | 0.56542304 |
| 80 | MP0006276_abnormal_autonomic_nervous | 0.54705036 |
| 81 | MP0008995_early_reproductive_senescence | 0.53956469 |
| 82 | MP0001529_abnormal_vocalization | 0.53734232 |
| 83 | MP0005084_abnormal_gallbladder_morpholo | 0.53535648 |
| 84 | MP0001970_abnormal_pain_threshold | 0.53459594 |
| 85 | MP0004233_abnormal_muscle_weight | 0.53065893 |
| 86 | MP0001440_abnormal_grooming_behavior | 0.52077926 |
| 87 | MP0003121_genomic_imprinting | 0.52062787 |
| 88 | MP0006292_abnormal_olfactory_placode | 0.51682871 |
| 89 | MP0001293_anophthalmia | 0.49819619 |
| 90 | MP0002932_abnormal_joint_morphology | 0.49277380 |
| 91 | MP0002882_abnormal_neuron_morphology | 0.48267173 |
| 92 | MP0001666_abnormal_nutrient_absorption | 0.46965912 |
| 93 | MP0006072_abnormal_retinal_apoptosis | 0.46438128 |
| 94 | MP0002734_abnormal_mechanical_nocicepti | 0.46317385 |
| 95 | MP0002095_abnormal_skin_pigmentation | 0.45155333 |
| 96 | MP0001879_abnormal_lymphatic_vessel | 0.45054997 |
| 97 | MP0002938_white_spotting | 0.44855244 |
| 98 | MP0005535_abnormal_body_temperature | 0.44292851 |
| 99 | MP0003635_abnormal_synaptic_transmissio | 0.44249292 |
| 100 | MP0003861_abnormal_nervous_system | 0.42811821 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 6.94553649 |
| 2 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 6.42935340 |
| 3 | Absent/shortened dynein arms (HP:0200106) | 6.42935340 |
| 4 | Chronic hepatic failure (HP:0100626) | 5.88265543 |
| 5 | Tubulointerstitial nephritis (HP:0001970) | 5.59630967 |
| 6 | Asymmetric septal hypertrophy (HP:0001670) | 4.89836464 |
| 7 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.82883772 |
| 8 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.78737835 |
| 9 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.78737835 |
| 10 | Abnormal ciliary motility (HP:0012262) | 4.77642182 |
| 11 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.75578753 |
| 12 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 4.63601959 |
| 13 | Attenuation of retinal blood vessels (HP:0007843) | 4.59751615 |
| 14 | Nasal polyposis (HP:0100582) | 4.18213990 |
| 15 | Male infertility (HP:0003251) | 4.12581848 |
| 16 | Infertility (HP:0000789) | 4.08791234 |
| 17 | Hyperkalemia (HP:0002153) | 3.93085632 |
| 18 | Cone-rod dystrophy (HP:0000548) | 3.90046138 |
| 19 | Potter facies (HP:0002009) | 3.89223641 |
| 20 | Facial shape deformation (HP:0011334) | 3.89223641 |
| 21 | Resting tremor (HP:0002322) | 3.87241964 |
| 22 | Abnormality of macular pigmentation (HP:0008002) | 3.84632491 |
| 23 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 3.84495114 |
| 24 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.76591948 |
| 25 | Bell-shaped thorax (HP:0001591) | 3.35919497 |
| 26 | Abnormality of the nasal mucosa (HP:0000433) | 3.33945748 |
| 27 | Nephronophthisis (HP:0000090) | 3.30732097 |
| 28 | Progressive sensorineural hearing impairment (HP:0000408) | 3.29925247 |
| 29 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.27805897 |
| 30 | Progressive cerebellar ataxia (HP:0002073) | 3.26326531 |
| 31 | Amelogenesis imperfecta (HP:0000705) | 3.24537142 |
| 32 | Hypoalphalipoproteinemia (HP:0003233) | 3.14914808 |
| 33 | Hypoplasia of the thymus (HP:0000778) | 3.08262456 |
| 34 | Abnormality of the renal medulla (HP:0100957) | 2.96516820 |
| 35 | Abnormality of dental color (HP:0011073) | 2.92685937 |
| 36 | Rhinitis (HP:0012384) | 2.91717156 |
| 37 | Postural instability (HP:0002172) | 2.89428544 |
| 38 | Hypoplastic ischia (HP:0003175) | 2.89059740 |
| 39 | Impulsivity (HP:0100710) | 2.87371710 |
| 40 | Enlarged epiphyses (HP:0010580) | 2.82732658 |
| 41 | Stage 5 chronic kidney disease (HP:0003774) | 2.76138966 |
| 42 | Truncal obesity (HP:0001956) | 2.75962404 |
| 43 | Abnormal spermatogenesis (HP:0008669) | 2.74001642 |
| 44 | Generalized aminoaciduria (HP:0002909) | 2.68486229 |
| 45 | Portal hypertension (HP:0001409) | 2.65053854 |
| 46 | Osteomalacia (HP:0002749) | 2.64136534 |
| 47 | Abnormality of the ischium (HP:0003174) | 2.61625932 |
| 48 | Tubulointerstitial abnormality (HP:0001969) | 2.60244770 |
| 49 | Renal dysplasia (HP:0000110) | 2.58804849 |
| 50 | Menstrual irregularities (HP:0000858) | 2.58097551 |
| 51 | Chronic bronchitis (HP:0004469) | 2.53015399 |
| 52 | Abnormal urine output (HP:0012590) | 2.52084902 |
| 53 | Congenital sensorineural hearing impairment (HP:0008527) | 2.47398422 |
| 54 | Azoospermia (HP:0000027) | 2.44942187 |
| 55 | Unilateral renal agenesis (HP:0000122) | 2.42577751 |
| 56 | Renovascular hypertension (HP:0100817) | 2.41209128 |
| 57 | Abnormality of the hepatic vasculature (HP:0006707) | 2.41088022 |
| 58 | Abnormality of renal excretion (HP:0011036) | 2.37241322 |
| 59 | Abnormality of the costochondral junction (HP:0000919) | 2.36746007 |
| 60 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.34831952 |
| 61 | Polydipsia (HP:0001959) | 2.34557533 |
| 62 | Abnormal drinking behavior (HP:0030082) | 2.34557533 |
| 63 | Double outlet right ventricle (HP:0001719) | 2.33089823 |
| 64 | Congenital malformation of the right heart (HP:0011723) | 2.33089823 |
| 65 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.31893543 |
| 66 | Abnormality of the aortic arch (HP:0012303) | 2.30971700 |
| 67 | Abnormality of potassium homeostasis (HP:0011042) | 2.30061600 |
| 68 | Intellectual disability, moderate (HP:0002342) | 2.29852815 |
| 69 | Abnormality of the parathyroid morphology (HP:0011766) | 2.28631788 |
| 70 | Myokymia (HP:0002411) | 2.21324387 |
| 71 | Failure to thrive in infancy (HP:0001531) | 2.19762437 |
| 72 | Occipital encephalocele (HP:0002085) | 2.09833025 |
| 73 | Bronchiectasis (HP:0002110) | 2.08749503 |
| 74 | Polyuria (HP:0000103) | 2.04978655 |
| 75 | Progressive hearing impairment (HP:0001730) | 2.01778987 |
| 76 | Pendular nystagmus (HP:0012043) | 2.01611865 |
| 77 | Increased purine levels (HP:0004368) | 1.97415469 |
| 78 | Hyperuricemia (HP:0002149) | 1.97415469 |
| 79 | Preauricular pit (HP:0004467) | 1.96424307 |
| 80 | Periauricular skin pits (HP:0100277) | 1.96424307 |
| 81 | Spastic paraparesis (HP:0002313) | 1.94085578 |
| 82 | Anterior segment dysgenesis (HP:0007700) | 1.94071691 |
| 83 | Focal segmental glomerulosclerosis (HP:0000097) | 1.92351916 |
| 84 | Atelectasis (HP:0100750) | 1.86284348 |
| 85 | Optic nerve hypoplasia (HP:0000609) | 1.85550694 |
| 86 | Peripheral hypomyelination (HP:0007182) | 1.85457195 |
| 87 | Chorioretinal atrophy (HP:0000533) | 1.83052513 |
| 88 | Abnormal albumin level (HP:0012116) | 1.79156645 |
| 89 | Hypoalbuminemia (HP:0003073) | 1.79156645 |
| 90 | Ventricular tachycardia (HP:0004756) | 1.78993974 |
| 91 | Pancreatic fibrosis (HP:0100732) | 1.78789569 |
| 92 | True hermaphroditism (HP:0010459) | 1.77684574 |
| 93 | Widely patent fontanelles and sutures (HP:0004492) | 1.75757474 |
| 94 | Abnormality of the pubic bones (HP:0003172) | 1.72541311 |
| 95 | Decreased central vision (HP:0007663) | 1.71739934 |
| 96 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 1.70443736 |
| 97 | Tubular atrophy (HP:0000092) | 1.69182584 |
| 98 | Genetic anticipation (HP:0003743) | 1.63078347 |
| 99 | Hyperthyroidism (HP:0000836) | 1.61949950 |
| 100 | Type II lissencephaly (HP:0007260) | 1.61356435 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 8.82336523 |
| 2 | TESK1 | 4.83017634 |
| 3 | INSRR | 3.98297131 |
| 4 | MAP4K2 | 3.78371478 |
| 5 | DDR2 | 3.51126674 |
| 6 | BRD4 | 3.41788260 |
| 7 | PLK2 | 3.36815721 |
| 8 | PNCK | 3.24450190 |
| 9 | STK38 | 2.95216780 |
| 10 | STK38L | 2.74680852 |
| 11 | CAMK1G | 2.62297490 |
| 12 | PRKD3 | 2.04553549 |
| 13 | PIK3CG | 1.91931879 |
| 14 | MAPK15 | 1.88436343 |
| 15 | PDK1 | 1.41443764 |
| 16 | PDPK1 | 1.35794920 |
| 17 | DYRK1B | 1.35355454 |
| 18 | NEK6 | 1.33382268 |
| 19 | WNK1 | 1.31192169 |
| 20 | MAP3K9 | 1.27896897 |
| 21 | MST1R | 1.27809430 |
| 22 | SIK2 | 1.27191954 |
| 23 | AKT3 | 1.14592297 |
| 24 | CAMK1D | 1.14348719 |
| 25 | MARK1 | 1.12556808 |
| 26 | PTK2B | 1.04961026 |
| 27 | TYRO3 | 1.02469364 |
| 28 | WNK3 | 1.01033372 |
| 29 | BMPR1B | 1.00941371 |
| 30 | CDK7 | 0.98707919 |
| 31 | GRK7 | 0.92886787 |
| 32 | MAP3K11 | 0.92574790 |
| 33 | CDK12 | 0.84459232 |
| 34 | KSR2 | 0.82946537 |
| 35 | BRAF | 0.80046887 |
| 36 | MARK2 | 0.78588853 |
| 37 | DYRK3 | 0.77981518 |
| 38 | RPS6KA2 | 0.75300053 |
| 39 | LATS2 | 0.73840144 |
| 40 | PRKG2 | 0.68674390 |
| 41 | UHMK1 | 0.68142434 |
| 42 | FRK | 0.64920800 |
| 43 | BRSK1 | 0.63791261 |
| 44 | SGK223 | 0.62917383 |
| 45 | SGK494 | 0.62917383 |
| 46 | PRKAA2 | 0.60490892 |
| 47 | PRKG1 | 0.59638449 |
| 48 | TIE1 | 0.59537033 |
| 49 | MAP3K4 | 0.58632485 |
| 50 | BRSK2 | 0.58279932 |
| 51 | CAMK1 | 0.53930254 |
| 52 | MAP2K2 | 0.51395372 |
| 53 | CDK3 | 0.50404005 |
| 54 | RPS6KA1 | 0.49771447 |
| 55 | PINK1 | 0.47665214 |
| 56 | PRKCG | 0.46134076 |
| 57 | MAP2K7 | 0.45383064 |
| 58 | CAMKK2 | 0.44233302 |
| 59 | CAMK4 | 0.44193251 |
| 60 | ROCK1 | 0.42594525 |
| 61 | GSK3B | 0.40694687 |
| 62 | CDK2 | 0.38797342 |
| 63 | STK39 | 0.38322737 |
| 64 | MAPK1 | 0.38215257 |
| 65 | CDK1 | 0.36998903 |
| 66 | RPS6KL1 | 0.36401073 |
| 67 | RPS6KC1 | 0.36401073 |
| 68 | WNK4 | 0.35770590 |
| 69 | DYRK2 | 0.35414426 |
| 70 | RPS6KA6 | 0.34143426 |
| 71 | SGK2 | 0.33020347 |
| 72 | LATS1 | 0.32796003 |
| 73 | PRKCZ | 0.31991932 |
| 74 | MAP3K8 | 0.31590493 |
| 75 | MUSK | 0.30920732 |
| 76 | MAPK8 | 0.30230537 |
| 77 | ACVR1B | 0.29230727 |
| 78 | SGK1 | 0.26490269 |
| 79 | MAP3K1 | 0.24340541 |
| 80 | CHEK1 | 0.23205683 |
| 81 | NTRK3 | 0.23189788 |
| 82 | PRKCB | 0.21810614 |
| 83 | MKNK2 | 0.21758857 |
| 84 | PRKACA | 0.20565738 |
| 85 | MAP3K2 | 0.20059079 |
| 86 | MAPK14 | 0.19681447 |
| 87 | PKN1 | 0.19551349 |
| 88 | FER | 0.19170573 |
| 89 | DYRK1A | 0.18664492 |
| 90 | CDK19 | 0.18529162 |
| 91 | AKT1 | 0.17851212 |
| 92 | MAPK10 | 0.16152931 |
| 93 | MTOR | 0.14880805 |
| 94 | ERBB3 | 0.14031517 |
| 95 | PRKAA1 | 0.13769092 |
| 96 | STK3 | 0.12932242 |
| 97 | BLK | 0.12806603 |
| 98 | TNIK | 0.12693346 |
| 99 | MAPK11 | 0.12149511 |
| 100 | PRKACB | 0.11851956 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 7.11879048 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 6.34305006 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.99714547 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.58457315 |
| 5 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.94586172 |
| 6 | RNA transport_Homo sapiens_hsa03013 | 1.76853985 |
| 7 | Taste transduction_Homo sapiens_hsa04742 | 1.71387473 |
| 8 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.67377162 |
| 9 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.66357024 |
| 10 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.58406312 |
| 11 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.57241104 |
| 12 | Phototransduction_Homo sapiens_hsa04744 | 1.56641977 |
| 13 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.55791547 |
| 14 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.53753090 |
| 15 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.48219809 |
| 16 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.48036629 |
| 17 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.43743715 |
| 18 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.40579967 |
| 19 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.38940935 |
| 20 | Allograft rejection_Homo sapiens_hsa05330 | 1.38003202 |
| 21 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.37497137 |
| 22 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.28545658 |
| 23 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.28198264 |
| 24 | Morphine addiction_Homo sapiens_hsa05032 | 1.27024207 |
| 25 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.26855165 |
| 26 | Nicotine addiction_Homo sapiens_hsa05033 | 1.22973763 |
| 27 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.21099348 |
| 28 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.20504104 |
| 29 | Circadian entrainment_Homo sapiens_hsa04713 | 1.14487876 |
| 30 | Endocytosis_Homo sapiens_hsa04144 | 1.11323266 |
| 31 | Viral myocarditis_Homo sapiens_hsa05416 | 1.10101506 |
| 32 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.06077045 |
| 33 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.05999556 |
| 34 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.03058870 |
| 35 | Salivary secretion_Homo sapiens_hsa04970 | 1.01265806 |
| 36 | Glutamatergic synapse_Homo sapiens_hsa04724 | 1.00675673 |
| 37 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 1.00562931 |
| 38 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.96081118 |
| 39 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.93868816 |
| 40 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.92851007 |
| 41 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.88953306 |
| 42 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.84102668 |
| 43 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.83715864 |
| 44 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.82525882 |
| 45 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.81818916 |
| 46 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.80148635 |
| 47 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.78942244 |
| 48 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.78707107 |
| 49 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.78444860 |
| 50 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.78401438 |
| 51 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.77210973 |
| 52 | Renin secretion_Homo sapiens_hsa04924 | 0.72307067 |
| 53 | ABC transporters_Homo sapiens_hsa02010 | 0.71078104 |
| 54 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.70927383 |
| 55 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.70669545 |
| 56 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.68506243 |
| 57 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.68361679 |
| 58 | Retinol metabolism_Homo sapiens_hsa00830 | 0.68206903 |
| 59 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.66350742 |
| 60 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.64268409 |
| 61 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.58394709 |
| 62 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.58167616 |
| 63 | Influenza A_Homo sapiens_hsa05164 | 0.57577073 |
| 64 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.57113231 |
| 65 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.56669443 |
| 66 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.56604893 |
| 67 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.55731137 |
| 68 | GABAergic synapse_Homo sapiens_hsa04727 | 0.54051624 |
| 69 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.53948221 |
| 70 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.53821364 |
| 71 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.53799601 |
| 72 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.52972579 |
| 73 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.51329514 |
| 74 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.51105031 |
| 75 | Insulin secretion_Homo sapiens_hsa04911 | 0.49752907 |
| 76 | Basal transcription factors_Homo sapiens_hsa03022 | 0.47557982 |
| 77 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.45695012 |
| 78 | Huntingtons disease_Homo sapiens_hsa05016 | 0.41057834 |
| 79 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.41027592 |
| 80 | Purine metabolism_Homo sapiens_hsa00230 | 0.40639460 |
| 81 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.38081569 |
| 82 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.37796791 |
| 83 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.37747949 |
| 84 | Bile secretion_Homo sapiens_hsa04976 | 0.36233140 |
| 85 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.34219206 |
| 86 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.33034164 |
| 87 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.32953365 |
| 88 | Tight junction_Homo sapiens_hsa04530 | 0.32296819 |
| 89 | Notch signaling pathway_Homo sapiens_hsa04330 | 0.32015737 |
| 90 | Long-term potentiation_Homo sapiens_hsa04720 | 0.30401729 |
| 91 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.30026369 |
| 92 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.26941400 |
| 93 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.26485712 |
| 94 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.23385153 |
| 95 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.23233247 |
| 96 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.23161689 |
| 97 | Metabolic pathways_Homo sapiens_hsa01100 | 0.22682248 |
| 98 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.22647941 |
| 99 | Lysine degradation_Homo sapiens_hsa00310 | 0.21382931 |
| 100 | Cocaine addiction_Homo sapiens_hsa05030 | 0.18141571 |

